Abstract：
:The mutational basis of APRT deficiency was studied in non-Japanese and Japanese patients. Fifteen different mutations have been identified altogether. Of these 4 were common, 6 were located in exon 3, and two at the exon 4-intron 4 junction. The common mutations were a missense mutation in exon 3 (asp65----val) and a T insertion at the exon 4-intron 4 junction in non-Japanese patients, a nonsense mutation in exon 3 (trp98----end) in Type I Japanese patients, and an exon 5 missense mutation (met136----thr) in Type II patients. The other mutations in Type I patients consisted mainly of single base changes and small deletions.
journal_name
Adv Exp Med Bioljournal_title
Advances in experimental medicine and biologyauthors
Sahota A,Chen J,Stambrook PJ,Tischfield JAdoi
10.1007/978-1-4615-7703-4_16subject
Has Abstractpub_date
1991-01-01 00:00:00pages
73-6eissn
0065-2598issn
2214-8019journal_volume
309Bpub_type
杂志文章abstract：:12(S)-HETE stimulates gene and cell surface expression of the integrin GPIIb/IIIa in carcinoma cells. The cells have high affinity binding sites for 12(S)-HETE. Analyses of the subcellular distribution and size of these sites showed that cytosol was the predominant location and that the apparent molecular weight was c...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4615-5325-0_41
更新日期：1997-01-01 00:00:00
abstract：:Peroxisomopathies are rare diseases due to dysfunctions of the peroxisome in which this organelle is either absent or with impaired activities. These diseases, at the exception of type I hyperoxaluria and acatalasaemia, affect the central and peripheral nervous system. Due to the significant impact of peroxisomal abno...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-3-030-60204-8_8
更新日期：2020-01-01 00:00:00
abstract：:Inhaling or ingesting hydrogen (H2) gas improves oxidative stress-induced damage in animal models and humans. We previously reported that H2 was consumed throughout the human body after the ingestion of H2-rich water and that the H2 consumption rate ([Formula: see text]) was 1.0 μmol/min/m(2) body surface area. To con...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4614-7411-1_42
更新日期：2013-01-01 00:00:00
abstract：:1. The age and sex distribution of the SUA of the Japanes people was the same as of the Caucasians. 2. The prevalence of gout was 0.4% of all the subjects, in adult male it was 1.2% and 76.4% in hyperuricemia above 10.0 mg/dl. 3. The incidence of a year throughout this population study was 0.02% per population. 4. Ser...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4615-9140-5_25
更新日期：1980-01-01 00:00:00
abstract：:The selective translation of maternal mRNAs encoding cell-fate determinants drives the earliest decisions of embryogenesis that establish the vertebrate body plan. This chapter will discuss studies in Xenopus laevis that provide insights into mechanisms underlying this translational control. Xenopus has been a powerfu...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-319-46095-6_2
更新日期：2017-01-01 00:00:00
abstract：:During the last years it has become obvious that the current way of treating epilepsy with antiepeileptic drugs is insufficient concerning the modification of the underlying disesease and provides merely a symptomatic treatment, without clear influence on the course of the disease. There is a pressing need to find alt...
journal_title：Advances in experimental medicine and biology
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doi：10.1007/978-1-4419-8969-7_6
更新日期：2004-01-01 00:00:00
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abstract：:In the cardiovascular and hematopoietic systems the Transient Receptor Potential Canonical 3 (TRPC3) channel has a well-recognized role in a number of signaling mechanisms that impact the function of diverse cells and tissues in physiology and disease. The latter includes, but is not limited to, molecular and cellular...
journal_title：Advances in experimental medicine and biology
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更新日期：2016-01-01 00:00:00
abstract：:In this review, an overview of the host's innate immune response against Mycobacterium tuberculosis will be provided. In particular, M. tuberculosis interaction with Toll-like receptors (TLRs), lung surfactant proteins and the antimicrobial mechanisms in the macrophage will be discussed along with their importance in ...
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更新日期：2009-01-01 00:00:00
abstract：:Monocytes/macrophages are highly involved in the process of renal injury, repair and fibrosis in many aspects of experimental and human renal diseases. Monocyte-derived macrophages, characterized by high heterogeneity and plasticity, are recruited, activated, and polarized in the whole process of renal fibrotic diseas...
journal_title：Advances in experimental medicine and biology
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更新日期：2019-01-01 00:00:00
abstract：:The results of selective breeding for differential impairment of motor activity after alcohol injection is shown for the first 13 generations of the LA and MA rat strains. In F13 rats, the mean decrement of activity after 1.5 g ethanol per kg i/p. is 90% for MA rats and 42% for LA rats, the strain difference significa...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4899-5181-6_5
更新日期：1977-01-01 00:00:00
abstract：:We have shown that T cells vigorously cycling in response to growth lymphokines are driven into apoptosis by potent TCR restimulation. This process, termed propriocidal regulation, appears to be a normal feedback inhibitory mechanism to prevent excessive T cell proliferation and lymphokine production. Exposure of T ce...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4615-1891-4_18
更新日期：1995-01-01 00:00:00
abstract：:Within the cochlea, broadband sounds like speech and music are filtered into a series of narrowband signals, each of which can be considered as a relatively slowly varying envelope (ENV) imposed on a rapidly oscillating carrier (the temporal fine structure, TFS). Information about ENV and TFS is conveyed in the timing...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-3-319-25474-6_1
更新日期：2016-01-01 00:00:00
abstract：:Alternative splicing is a powerful means of controlling gene expression and increasing protein diversity. Most genes express a limited number of mRNA isoforms, but there are several examples of genes that use alternative splicing to generate hundreds, thousands and even tens of thousands of isoforms. Collectively such...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-0-387-77374-2_4
更新日期：2007-01-01 00:00:00
abstract：:Modern society is witnessing a widespread tendency to postpone parenthood due to a number of socioeconomic factors. This ever-increasing trend relates to both women and men and raises many concerns about the risks and consequences lying beneath the natural process of aging. The negative influence of the advanced mater...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4614-7783-9_2
更新日期：2014-01-01 00:00:00
abstract：:It is clear that the combination of 31P NMR studies of muscle and of other organs with biochemical and physiological measurements is an extremely powerful method for studying cellular energetics. We have presented examples of our on-going experiments. Well defined and stable in vitro preparations of mammalian fast-twi...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4684-7790-0_27
更新日期：1983-01-01 00:00:00
abstract：:Amyotrophic lateral sclerosis (ALS) is one of the major forms of motor neuron disease (MND), a group of degenerative disorders causing progressive motor neuron death leading to eventual paralysis and death. The pathogenesis of MND is poorly understood and may include genetic and/or environmental factors, with a common...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：
更新日期：2008-01-01 00:00:00
abstract：:Studies on the interaction of the green tea polyphenol (-)-Epigallocatechin-3-gallate (EGCG) with fourteen disease-related amyloid polypeptides and prions Huntingtin, Amyloid-beta, alpha-Synuclein, islet amyloid polypeptide (IAPP), Sup35, NM25 and NM4, tau, MSP2, semen-derived enhancer of virus infection (SEVI), immun...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-3-319-18365-7_7
更新日期：2015-01-01 00:00:00
abstract：:This study was designed to assess risk for retinal toxicity associated with administration of high-dose sildenafil citrate to dogs heterozygous for a functionally null mutation in Pde6a over a 4-month period. Three Pde6a +/- dogs were administered 14.3 mg/kg sildenafil per os and two Pde6a +/- dogs placebo once daily ...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-3-030-27378-1_61
更新日期：2019-01-01 00:00:00
abstract：:During the development of an amplification refractory mutation system (ARMS) assay for the detection of the Delta F508 mutation and corresponding normal locus in cystic fibrosis we discovered a family in which a further variant of the sequence exists. PCR amplification and direct sequencing of a region of exon 10 of t...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4684-5934-0_48
更新日期：1991-01-01 00:00:00
abstract：:Tumor cells usually express antigens which are distinguishable from normal "self" antigens and are thereby recognized by the host immune system. However, the host immune system barely responds to tumors in patients. Supplementation with adjuvant (such as BCG-CWS) in patients with cancer contributes to regression of in...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/0-306-46817-4_21
更新日期：2000-01-01 00:00:00
abstract：:Pioneered by the classical mouse embryonic stem cells (ESCs), various stem cell lines representing the peri- and postimplantation stages of embryogenesis have been established. To gain insight into the gene regulatory network operating in these cells, we first investigated epiblast stem cells (EpiSCs), performing ChIP...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-981-10-7311-3_17
更新日期：2018-01-01 00:00:00
abstract：:RNA virus quasispecies are subjected to processes of positive Darwinian selection, to a very active and continuous negative selection and to random genetic drift. The course of RNA virus evolution is often unpredictable, and recent results suggest that even highly conserved motifs, once regarded as essential for infec...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-1-4615-5331-1_93
更新日期：1998-01-01 00:00:00
abstract：:Replacement of the single cysteine residue (C192) with serine in the Streptococcus pyogenes extracellular cysteine protease (SCP) prevented auto-catalytic processing of the 40-kDa zymogen to the 28-kDa mature form and eliminated proteolytic activity. SCP incubated with human endothelial cells induced a time- and conce...
journal_title：Advances in experimental medicine and biology
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doi：10.1007/978-1-4899-1825-3_136
更新日期：1997-01-01 00:00:00
abstract：:The function and characteristics of mouse folylpolyglutamate synthetase have been examined. Folate polyglutamates were poor substrates for the efflux mechanism for monoglutamates in L1210 mouse leukemia cells, with negligible loss of preformed folate polyglutamates to the medium over four hours. Disruption of folate m...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4757-5241-0_24
更新日期：1983-01-01 00:00:00
abstract：:Most modern biomedical vocabularies employ some hierarchical representation that provides a "broader/narrower" meaning relationship among the "codes" or "concepts" found within them. Often, however, we may find within the clinical setting the creation and curation of unstructured custom vocabularies used in the everyd...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4419-5913-3_71
更新日期：2010-01-01 00:00:00
abstract：:Oxytocin is a nonapeptide hormone that participates in the regulation of parturition and lactation. It has also been implicated in various behaviors, such as mating and maternal, and memory. To investigate whether or not oxytocin (OT) is essential for any of these functions, we eliminated, by homologous recombination,...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4615-4871-3_30
更新日期：1998-01-01 00:00:00
abstract：:Lipid A is a strong activator of monocytes to release immune stimulators such as proinflammatory cytokines. Overproduction of inflammatory cytokines such as TNF and IL-6 is known to cause septic shock that frequently leads to multiple organ failure and finally to death. In recent years, Lipid A has also been recognize...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章
doi：10.1007/978-1-4419-1603-7_6
更新日期：2010-01-01 00:00:00
abstract：:Ventricular fibrillation is the major underlying cause of sudden cardiac death. Understanding the complex activation patterns that give rise to ventricular fibrillation requires high resolution mapping of localized activation. The use of multi-electrode mapping unraveled re-entrant activation patterns that underlie ve...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-319-17641-3_14
更新日期：2015-01-01 00:00:00
abstract：:A multilayered epithelium to fulfil its function must be replaced throughout the lifespan. This is possible due to the presence of multipotent, self-renewing epidermal stem cells that give rise to differentiated cell lineages: keratinocytes, hairs, as well as sebocytes. Till now the molecular mechanisms responsible fo...
journal_title：Advances in experimental medicine and biology
pub_type： 杂志文章,评审
doi：10.1007/978-3-030-31206-0_12
更新日期：2019-01-01 00:00:00
